^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    GENE:

    MLH1 (MutL homolog 1)

    i
    Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
    3d
    Microsatellite status and minimal microsatellite shift in atypical endometrial hyperplasia and endometrial cancer: an analysis of 848 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Minimal microsatellite shift is commonly detected in MSI-H cases, and some cases are difficult to interpret due to their classification within the equivocal range. Increasing the number of microsatellite loci, combined with visualization graph comparison and integration of mismatch repair protein immunophenotype and histological features, can effectively improve the accuracy of MSI-H interpretation.
    Journal • MSi-H Biomarker
    |
    MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
    |
    MSI-H/dMMR • POLE mutation
    5d
    Management of locally advanced lynch syndrome rectal cancer during pregnancy with neoadjuvant immunochemotherapy: a case report. (PubMed, Front Oncol)
    The patient subsequently underwent neoadjuvant chemoradiotherapy (50.4 Gy in 28 fractions) combined with two cycles of capecitabine plus oxaliplatin (CapeOx) and tislelizumab, achieving significant tumor regression (yT2N0M0). LS-associated rectal cancer during pregnancy requires individualized, multidisciplinary management. Medical termination followed by neoadjuvant immunochemoradiotherapy can optimize maternal outcomes while minimizing fetal and genetic risks.
    Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    Tevimbra (tislelizumab-jsgr) • capecitabine • oxaliplatin
    6d
    Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort. (PubMed, Front Oncol)
    Germline testing helps identify probands and FDRs who are healthy mutation carriers. Risk-reduction strategies for them can help reduce the risk of CRC in the Indian population.
    Journal
    |
    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    6d
    Germline Cancer Testing in Unselected Patients With Neuroendocrine Neoplasms: A Multi-center Prospective Study. (PubMed, Pancreas)
    Universal germline testing in unselected NEN patients identified clinically relevant PGVs in over 15% of cases. These findings support broader genetic testing approaches to guide treatment, enhance familial risk assessment, and inform cascade testing-regardless of traditional clinical selection criteria.
    Clinical • Journal
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog) • MITF (Melanocyte Inducing Transcription Factor)
    7d
    S2107: Testing the Addition of Nivolumab to Standard Treatment for Patients With Metastatic or Unresectable Colorectal Cancer That Have a BRAF Mutation (clinicaltrials.gov)
    P2, N=86, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2026 --> Jun 2027 | Trial primary completion date: Sep 2026 --> Feb 2026
    Trial completion date • Trial primary completion date
    |
    BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    BRAF V600E • BRAF V600
    |
    Opdivo (nivolumab) • Erbitux (cetuximab) • Braftovi (encorafenib) • ABP 206 (nivolumab biosimilar)
    7d
    Associations between molecular classification and response to intra-uterine levonorgestrel device therapy in patients with medically managed endometrial cancer and endometrial intra-epithelial neoplasia: a multi-center Endometrial Cancer Molecularly Targeted Therapy (ECMT2) Consortium study. (PubMed, Int J Gynecol Cancer)
    The complete response to levonorgestrel intra-uterine device therapy was lower than expected for endometrial intra-epithelial neoplasia. Response rates varied by molecular classification, with worse outcomes observed in deficient mismatch repair and p53 abnormal sub-types. Although limited by sample size, these findings suggest that levonorgestrel intra-uterine device therapy may not be sufficient for all molecular sub-groups.
    Journal
    |
    TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    MSI-H/dMMR • TP53 wild-type • POLE mutation
    7d
    Case Report: gastric signet-ring-cell adenocarcinoma in a young adult with tracheoesophageal fistula/esophageal atresia and complex gastrointestinal history. (PubMed, Front Oncol)
    This case highlights the interplay of congenital foregut anomalies, chronic inflammation, and SRC development, and underscores the critical importance of meticulous biopsy handling and personalized endoscopic care. Tailored surveillance may be appropriate in select early-stage SRC cases where localization is uncertain and imaging is negative.
    Journal
    |
    TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CTNNA1 (Catenin Alpha 1)
    7d
    Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study. (PubMed, Oncol Res)
    Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance.
    Journal
    |
    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M)
    7d
    Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants. (PubMed, JCO Precis Oncol)
    Patients with cancer are motivated to communicate PV results to relatives. However, few clinicians are involved and relatives' testing remains low. Novel care delivery models are needed to advance cascade testing and precision risk reduction.
    Journal • BRCA Biomarker
    |
    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
    7d
    Constitutional methylation of the MLH1 promoter: a case series including tumors not typically caused by Lynch Syndrome. (PubMed, Eur J Hum Genet)
    However, these patients are difficult to distinguish from other Lynch patients based on the clinical presentation. Awareness of this rare phenomenon and systematic testing of potential carriers is paramount to detect this condition and crucial to estimate the risk of cancer and optimize care for patients and their families.
    Journal
    |
    MLH1 (MutL homolog 1)
    8d
    Pathogenic Germline Variants in a Racially Diverse Real-World Cohort of Patients With Prostate Cancer. (PubMed, J Natl Compr Canc Netw)
    These data support NCCN Guideline-recommended universal genetic testing for patients with aggressive PCa.
    Journal • Real-world evidence • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2)
    9d
    Computational Analysis of Differentially Expressed Genes in Arsenic-Induced Carcinogenesis and Their Effect on Human Repair Mechanisms. (PubMed, Environ Mol Mutagen)
    The protective effects of six curcumin compounds were examined using molecular docking with AutoDock 4.2.6 to assess protein dynamics and binding interactions. Optimal complexes were selected for dynamics simulation using GROMACS, and potential strategies for long-term cancer prevention related to arsenic exposure were identified.
    Journal • PARP Biomarker
    |
    MLH1 (MutL homolog 1) • PARP1 (Poly(ADP-Ribose) Polymerase 1) • MSH3 (MutS Homolog 3) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • PMS1 (PMS1 protein homolog 1) • E2F1 (E2F transcription factor 1) • FEN1 (Flap Structure-Specific Endonuclease 1) • POLA1 (DNA Polymerase Alpha 1)
    |
    EZH2 mutation